Tangier disease
Enzyme or protein defect
ABCA1 cholesterol efflux transporter
Accumulates or becomes deficient
Cholesteryl esters in reticuloendothelial cells
Key features
Near-absent HDL, orange tonsils, hepatosplenomegaly, neuropathy
Management
Supportive
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · fetched just now · sorted by publication date
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1
COPI Coatomer Regulates Several Steps of HDL Metabolism.
Panteloglou G, Zanoni P, Law CS, Woods B, Othman A, Yalcinkaya M, Norrelykke SF, Rzepiela AJ, Stoma S, Steble… · 2026-08-13
unreviewed -
2
Molecular Dynamics Simulations Reveal Structural Changes Associated with the ABCA1 R230C Functional Variant.
de la Cruz-López JJ, Martínez-González LRT, Albortante-Morato C, Palma-Orozco R, Flores-Dorantes MT, Rosas-Tr… · 2026-09-16
open access unreviewed -
3
L-cell-specific <i>Abca1</i> deficiency impairs glucose homeostasis through defective GLP-1 production in mice.
Gao L, Lin Y, Ye Q, Zhao Y, He W, Lv S, Yang K, Chen J, Zhang Z, Xiang X, Xu G. · 2026-07-16
open access unreviewed - 4
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5
ABCA1 as a Gatekeeper of Pancreatic β-Cell Cholesterol Homeostasis: Links Between Lipoprotein Stress, Lipotoxicity, and Insulin Secretion.
Fukunaga K, Kobayashi T, Saheki T, Yoshimura T, Jiang W, Zhang H, Ly R, Kumano M, Yamashita A, Imachi H, Mura… · 2026-09-02
open access unreviewed -
6
Current and Future Perspectives of LDL-C Lowering Therapies 2026.
Tada H, Sakata K, Usui S, Takamura M. · 2026-05-28
cited 1× open access unreviewed -
7
Cholesterol at the Center of Alzheimer's Disease: A Unifying Hypothesis on the Pathogenic Mechanism.
Zhu BT. · 2026-07-09
open access unreviewed -
8
EHMN2026<sup>®</sup>T: A License-Aware AI-QSP Integration Framework Linking EHMN2026<sup>®</sup> with TRANSFAC<sup>®</sup>, TRANSPATH<sup>®</sup> and HumanPSD™ for Diagnostic-Metabolite Interpretation.
Goryanin I, Slovianov L, Goryanin IV, Kel A. · 2026-07-04
open access unreviewed -
9
ApoE lipoproteins in the central nervous system under homeostasis and role in Alzheimer's disease and related disorders.
Strickland MR, Holtzman DM. · 2026-07-07
open access unreviewed -
10
Lipid metabolism, microglia, and stroke.
Chen L, Zhang M, Wei W, Li Q, Wang L, Zhao M, Li H, Xu H, Yang P, Zhang P. · 2025-08-13
cited 6× open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.